Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name B3GNT2 gene B3GNT2 Expert Review Red;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy Abnormal cerebral cortex morphology;HP:0002538 23359570;23877401 False 1 0;0;100 4.69 True ENSG00000170340 ENSG00000170340 HGNC:15629 BICD2 gene BICD2 Expert Review Red;Literature Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder (MONDO#0700092), BICD2-related Abnormal cerebral cortex morphology;HP:0002538 35896821 False 1 0;0;100 4.69 True ENSG00000185963 ENSG00000185963 HGNC:17208 CEP83 gene CEP83 Expert Review Red;Literature Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 18, MIM# 615862 Abnormal cerebral cortex morphology;HP:0002538 39219159 False 1 0;0;100 4.69 True ENSG00000173588 ENSG00000173588 HGNC:17966 CLASP1 gene CLASP1 Expert Review Red;Literature Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder MONDO:0700092, CLASP1-related Abnormal cerebral cortex morphology;HP:0002538 39040917 False 1 0;0;100 4.69 True ENSG00000074054 ENSG00000074054 HGNC:17088 DAG1 gene DAG1 Expert Review Red;Literature Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Walker-Warburg syndrome associated with tectocerebellar dysraphia;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 (MIM#616538)" Abnormal cerebral cortex morphology;HP:0002538 29337005 False 1 0;0;100 4.69 True ENSG00000173402 ENSG00000173402 HGNC:2666 DAG1 gene DAG1 Expert Review Red;Literature Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 (MIM#616538) Abnormal cerebral cortex morphology;HP:0002538 24052401 False 1 0;0;100 4.69 True ENSG00000173402 ENSG00000173402 HGNC:2666 ENO1 gene ENO1 Expert Review Red;Literature Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polymicrogyria, MONDO:0000087, ENO1-related Abnormal cerebral cortex morphology;HP:0002538 32488097 False 1 0;0;100 4.69 True ENSG00000074800 ENSG00000074800 HGNC:3350 EOMES gene EOMES Expert Review Red;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, MONDO:0001149, EOMES-related Abnormal cerebral cortex morphology;HP:0002538 17353897 False 1 0;0;100 4.69 True ENSG00000163508 ENSG00000163508 HGNC:3372 ERMARD gene ERMARD Expert Review Red;Australian Genomics Health Alliance Brain Malformation Flagship;Victorian Clinical Genetics Services Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Periventricular nodular heterotopia 6, MIM#615544 Abnormal cerebral cortex morphology;HP:0002538 24056535;27087860 False 1 0;0;100 4.69 True ENSG00000130023 ENSG00000130023 HGNC:21056 INTS8 gene INTS8 Expert Review Red;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572 Abnormal cerebral cortex morphology;HP:0002538 28542170 False 1 0;0;100 4.69 True ENSG00000164941 ENSG00000164941 HGNC:26048 MCF2 gene MCF2 Expert Review Red;Literature Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Perisylvian polymicrogyria Abnormal cerebral cortex morphology;HP:0002538 31846234 False 1 0;0;100 4.69 True ENSG00000101977 ENSG00000101977 HGNC:6940 PEX11B gene PEX11B Expert Review Red;Literature Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "?Peroxisome biogenesis disorder 14B (MIM#614920)" Abnormal cerebral cortex morphology;HP:0002538 22581968 False 1 0;0;100 4.69 True ENSG00000131779 ENSG00000131779 HGNC:8853 SHH gene SHH Expert Review Red;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Schizencephaly (MIM#269160) Abnormal cerebral cortex morphology;HP:0002538 19533790 False 1 0;0;100 4.69 True ENSG00000164690 ENSG00000164690 HGNC:10848 SIX3 gene SIX3 Expert Review Red;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Abnormal cerebral cortex morphology;HP:0002538 20157829 False 1 0;100;0 4.69 True ENSG00000138083 ENSG00000138083 HGNC:10889 SRD5A3 gene SRD5A3 Expert Review Red;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iq (MIM#612379) Abnormal cerebral cortex morphology;HP:0002538 18271001;20637498;31638560;27480077 False 1 0;0;100 4.69 True ENSG00000128039 ENSG00000128039 HGNC:25812 SRD5A3 gene SRD5A3 Expert Review Red;Literature Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iq (MIM#612379) Abnormal cerebral cortex morphology;HP:0002538 18271001;20637498;31638560;27480077 False 1 0;0;100 4.69 True ENSG00000128039 ENSG00000128039 HGNC:25812 SRPX2 gene SRPX2 Expert Review Red;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Rolandic epilepsy, mental retardation, and speech dyspraxia, MIM# 300643 Abnormal cerebral cortex morphology;HP:0002538 16497722;23933820;23871722 False 1 0;0;100 4.69 True ENSG00000102359 ENSG00000102359 HGNC:30668 SYNCRIP gene SYNCRIP Expert Review Red;Literature Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted SYNCRIP-related neurodevelopmental disorder Abnormal cerebral cortex morphology;HP:0002538 34157790 False 1 0;0;100 4.69 True ENSG00000135316 ENSG00000135316 HGNC:16918 TMEM216 gene TMEM216 Expert Review Red;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 2 (MIM#608091) Abnormal cerebral cortex morphology;HP:0002538 20512146 False 1 0;0;100 4.69 True ENSG00000187049 ENSG00000187049 HGNC:25018 TMTC3 gene TMTC3 Expert Review Red;Literature Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lissencephaly 8 (MIM#617255) Abnormal cerebral cortex morphology;HP:0002538 27773428;28973161 False 1 0;0;100 4.69 True ENSG00000139324 ENSG00000139324 HGNC:26899 TUBA8 gene TUBA8 Expert Review Red;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180 Abnormal cerebral cortex morphology;HP:0002538 19896110;31481326;28388629 False 1 0;0;100 4.69 True ENSG00000183785 ENSG00000183785 HGNC:12410 TUBA8 gene TUBA8 Expert Review Red;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180 Abnormal cerebral cortex morphology;HP:0002538 19896110;31481326;28388629 False 1 0;0;100 4.69 True ENSG00000183785 ENSG00000183785 HGNC:12410 TUBGCP4 gene TUBGCP4 Expert Review Red;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly and chorioretinopathy, autosomal recessive, 3 (MIM#616335) Abnormal cerebral cortex morphology;HP:0002538 25817018;32270730 False 1 0;0;100 4.69 True ENSG00000137822 ENSG00000137822 HGNC:16691